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Kabuki make-up syndrome

disorder
SNOMED 313426007CUI C0796004

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Anteriorly displaced anus
Always present (100%)HP:0001545
Bilateral ptosis
Always present (100%)HP:0001488
Bilateral renal hypoplasia
Always present (100%)HP:0012584
Bronchiolitis
Always present (100%)HP:0011950
Choanal atresia
Always present (100%)HP:0000453
Craniosyostosis
Always present (100%)HP:0001363
Decreased response to growth hormone stimulation test
Always present (100%)HP:0000824
Decreased volume of lip vermillion
Always present (100%)HP:0000233
Developmental dysplasia of the hip
Always present (100%)HP:0001385
Difficulty articulating speech
Always present (100%)HP:0001260
Dilatation of lateral cerebral ventricles
Always present (100%)HP:0006956
Down-slanting palpebral fissure
Always present (100%)HP:0000494
Finger clinodactyly
Always present (100%)HP:0040019
Flat philtrum
Always present (100%)HP:0000319
Full lower lip
Always present (100%)HP:0000179
Growth failure
Always present (100%)HP:0001510
Hypoparathyroidism
Always present (100%)HP:0000829
Hypothyroidism
Always present (100%)HP:0000821
Increased intercanthal distance
Always present (100%)HP:0000506
Increased nasal width
Always present (100%)HP:0000445
Indentation of chin
Always present (100%)HP:0010751
Intrauterine growth retardation, IUGR
Always present (100%)HP:0001511
Inverted V-shaped upper lip
Always present (100%)HP:0010804
Lacrimal duct obstruction
Always present (100%)HP:0000579
Lobar holoprosencephaly
Always present (100%)HP:0006870
Localized dyscognitive seizure
Always present (100%)HP:0002384
Microtia
Always present (100%)HP:0008551
Missing more than six teeth
Always present (100%)HP:0000677
Narrow, high-arched roof of mouth
Always present (100%)HP:0002705
Nasal hypoplasia
Always present (100%)HP:0003196

Related Conditions

Multiple malformation syndrome with facial defects as major feature(parent)
Congenital malformation syndromes associated with short stature(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
313426007
UMLS CUI
C0796004
Fully Specified Name
Kabuki make-up syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.